Preliminary assessment on use of Fragment Length DNA Analysis in generating molecular ailment mapof Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD) is arecessive X-linked form of muscular dystrophy,affecting around 1 in 3,600 boys, which results inmuscle degeneration and eventual death. Whileboth sexes can carry the mutation, females rarelyexhibit signs of the disease. The disorder is causedby a mutation in the dystrophin gene, the largestgene located on the human X chromosome, whichcomprises 79 exons, which are interspersed withnon-coding introns. Deletions of 1 or more exons disrupts the synthesis of the dystrophin protein which plays a central role in linking the contractile apparatus ofa muscle fiber to the cell membrane and surrounding extracellularmatrix. An absence or a low level of dystrophin leads to progressive muscle fiber degeneration characteristic of DMD, with fatty andfibrous tissue replacement of muscles.

The exon deletions were detected in the samples taken from DMDaffected / suspected children by using fragment length analysismethod on ABI-310 using an MLPA based Kit. This study also carriedout correlation on genetic malfunctioning to the extent of physicalabnormality. CMDN aims to carry out this research in an extendednumber of patients, particularly among the non-symptomaticsiblings to screen the possibility of future manifestation.